Results 71 to 80 of about 64,516 (201)

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, Fanny Kortüm, Angela Abicht, Laura Herrmann, Theresia Herget   +6 more
wiley   +1 more source

Targeted Anti‐IL‐1 Immunomodulatory Therapy in Pediatric Onset PPP1R13L‐Related Arrhythmogenic Cardiomyopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive loss‐of‐function variants in PPP1R13L cause an ultra‐rare cardiocutaneous syndrome characterized by rapidly progressive arrhythmogenic cardiomyopathy (ACM). PPP1R13L encodes iASPP, which has two potentially overlapping mechanisms driving ACM as both a regulator of NFκB‐mediated inflammation and a binding partner within the ...
Aaron Renberg, Savannah Coppersmith, Owen Merritt, Amer Heider, Adam Helms, Thomas Michniacki, Jack Luxford, Sarah Josephi‐Taylor, Philip Roberts, Joshua Meisner   +9 more
wiley   +1 more source

Complete Genome Sequence of a Novel Human Enterovirus 85 (HEV85) Recombinant with an Unknown New Serotype HEV-B Donor Sequence Isolated from a Child with Acute Flaccid Paralysis

Genome Announcements, 2013
ABSTRACT A Chinese human enterovirus 85 (HEV85) isolate, HTYT-ARL-AFP02F/XJ/CHN/2011, was isolated from a stool specimen of a child with acute flaccid paralysis in Xinjiang, China, in 2011. The complete genome sequence revealed that a natural intertypic recombination event had occurred between HEV85 and a previously undescribed serotype of ...
Sun, Qiang, Zhang, Yong, Cui, Hui, Zhu, Shuangli, Zhu, Zhen, Huang, Guohong, Li, Xiaolei, Zhang, Bo, Yan, Dongmei, An, Hongqiu, Xu, Wenbo   +10 more
openaire   +2 more sources

Performance of diagnostic tests to detect respiratory viruses in older adults. [PDF]

, 2010
The performance of 4 laboratory methods for diagnosis of viral respiratory tract infections (RTI) in older adults was evaluated. Seventy-four nasopharyngeal (NP) swab specimens were obtained from 60 patients with RTI at a long-term care facility over 2 ...
Caram, Lauren B, Hymas, Weston C, Petti, Cathy A, Polage, Christopher R, Schmader, Kenneth, She, Rosemary C, Taggart, Edward W, Woods, Christopher W   +7 more
core  

The cross-reactivity of the enterovirus 71 to human brain tissue and identification of the cross-reactivity related fragments [PDF]

, 2010
Background EV71 occasionally cause a series of severe neurological symptoms, including aseptic meningitis, encephalitis, and poliomyelitis-like paralysis. However, the neurological destruction mechanism was remained to be clarified.
Chun Jia, Jiang Liu, Wan Li, Chun Ma, Shu Lin, Yi Hao, Xue Gao, Xiao Liu, Yan Xu, Lian Zhang, Chuan Qin   +10 more
core   +1 more source

Nutritional, phytochemical, and potential health benefits of Monostroma spp.: A systematic review

Food Biomacromolecules, EarlyView.
Abstract Monostroma spp., belonging to the green seaweed, has been known to be health‐promoting food items as prophylactic agents worldwide. It has shown wide arrays of bioactivities for the prevention and treatment of various diseases. A total of 47 articles were selected to review following the Preferred Reporting Items for Systematic reviews and ...
Md Shariful Islam
wiley   +1 more source

Sequencing of ‘untypable’ enteroviruses reveals two new types, EV-77 and EV-78, within human enterovirus type B and substitutions in the BC loop of the VP1 protein for known types

Journal of General Virology, 2003
The N-terminal part of VP1 was sequenced for 43 enterovirus isolates that could not initially be neutralized with LBM pools or in-house antisera. Most isolates were found to belong to human enterovirus type A (HEV-A) and HEV-B (18 isolates of each). All HEV-A isolates could be typed by sequencing, with CV (coxsackievirus)-A16 and EV (enterovirus)-71 ...
Norder, H., Bjerregaard, L., Magnius, L., Aymard, M., Chomel, Jj, Lina, B.   +5 more
openaire   +3 more sources

Virus taxonomy: the database of the International Committee on Taxonomy of Viruses (ICTV) [PDF]

, 2017
The International Committee on Taxonomy of Viruses (ICTV) is charged with the task of developing, refining, and maintaining a universal virus taxonomy.
Dempsey, Donald M., Hendrickson, Robert Curtis, Lefkowitz, Elliot J., Orton, Richard J., Siddell, Stuart G., Smith, Donald B.   +5 more
core   +3 more sources

Nail Disorders in Systemic Conditions

JEADV Clinical Practice, EarlyView.
ABSTRACT Nail findings in children can be indicative of an underlying systemic disease. Many of these findings are seen in multiple entities and are not specific to one disease. The importance of specifically examining for these nail changes cannot be overstated.
Jane Sanders Bellet
wiley   +1 more source

Whole Genome Sequencing of Enteroviruses Species A to D by High-Throughput Sequencing: Application for Viral Mixtures

Frontiers in Microbiology, 2018
Human enteroviruses (EV) consist of more than 100 serotypes classified within four species for enteroviruses (EV-A to -D) and three species for rhinoviruses, which have been implicated in a variety of human illnesses. Being able to simultaneously amplify
Marie-Line Joffret, Marie-Line Joffret, Marie-Line Joffret, Patsy M. Polston, Patsy M. Polston, Richter Razafindratsimandresy, Maël Bessaud, Maël Bessaud, Maël Bessaud, Jean-Michel Heraud, Francis Delpeyroux, Francis Delpeyroux, Francis Delpeyroux   +12 more
doaj   +1 more source